JAK2V617F Mutation Analysis, Quantitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis by NGS
Use
Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). This test will assess for the JAK2V617F (exon 14) mutation first and will reflex JAK2 exon 12 to 15 mutation analysis if the JAK2V617F mutation is negative.
Special Instructions
Not provided.
Limitations
This assay has a sensitivity of approximately 1% VAF for JAK2V617F and 2.5% VAF for other mutations in JAK2 exons 12 to 15. Deletions in JAK2 up to 6 bp and insertions up to 34 bp have been detected in validation studies. The test has not been cleared or approved by the FDA.
Methodology
NGS (Amplicon-based)
Biomarkers
JAK2
GeneNo genes
Gene
LOINC Codes
- 48726-4 - JAK2 gene Mut Anl Bld/T
- 66746-9 - Specimen type
- 48726-4 - JAK2 gene Mut Anl Bld/T
- 53761-3 - JAK2 p.V617F mut/Nor Bld/T
- 62364-5 - Test performance info Spec
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, yellow-top (ACD) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Storage Instructions
Submit at room temperature. Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Specimen does not meet all of the criteria for sample type, container, minimum volume, collection and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed or otherwise visibly degraded; contamination by another specimen; specimen containing foreign material
Other tests from different labs that may be relevant